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FLASH GENE

Symbol

DOLK

contributors: mct/npt - updated : 08-10-2013

HGNC name	dolichol kinase
HGNC id	23406

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	CDG1M congenital disorder of glycosylation, type I M DK1D dolichol kinase deficiency
Location	9q34.11      Physical location : 131.707.809 - 131.710.012
Synonym name	SEC59 homolog
	dolichol kinase 1
	transmembrane protein 15
Synonym symbol(s)	KIAA1094, DK, DK1, TMEM15, SEC59
EC.number	2.7.1.108

DNA

TYPE	functioning gene
STRUCTURE	2.20 kb     1 Exon(s)

MAPPING

cloned

Y

linked

N

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_014908 1 - 2267 NP_055723 59 538 - 2006 1692381

EXPRESSION

Type	ubiquitous

constitutive of

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Endocrine pancreas         Lymphoid/Immune spleen           tonsils       predominantly Nervous brain         Reproductive female system ovary     highly Urinary bladder       moderately

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular       moderately

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	N terminus extended into the lumen and a cytoplasmically oriented C terminus
	cytoplasmic loop between TMDs 11-12, containing the critical conserved residues, lysine 470 and lysine 471 in the (470)KKTXEG(475) motif, is part of the CTP-binding site

HOMOLOGY

interspecies	homolog to rattus Tmem15 (95.3 pc)
	homolog to murine Tmem15 (95.3 pc)
	homolog to chicken TMEM15 (78.5 pc)

Homologene

FAMILY

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,endoplasmic reticulum ,rough,smooth
text	integral membrane protein

basic FUNCTION	may have a dolichol kinase activity
	catalyzes the CTP-dependent phosphorylation of dolichol in the biosynthesis de novo and possibly the recycling of dolichyl monophosphate
	acting as a phosphatidase cytidylyltransferase
	responsible for the final step of the biosynthesis of dolichol phosphate, involved in several glycosylation reactions, such as N-glycosylation, glycosylphosphatidylinositol (GPI)-anchor biosynthesis, and C- and O-mannosylation

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

lipid/lipoprotein

signaling

phospholipid biosynthesis

a component

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

DK1D , CDG1M

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS